7,178 results match your criteria employing genetic

Challenges of analysing stochastic gene expression in bacteria using single-cell time-lapse experiments.

Essays Biochem 2021 Apr 9. Epub 2021 Apr 9.

Department of Engineering, University of Cambridge, Cambridge, United Kingdom.

Stochastic gene expression causes phenotypic heterogeneity in a population of genetically identical bacterial cells. Such non-genetic heterogeneity can have important consequences for the population fitness, and therefore cells implement regulation strategies to either suppress or exploit such heterogeneity to adapt to their circumstances. By employing time-lapse microscopy of single cells, the fluctuation dynamics of gene expression may be analysed, and their regulatory mechanisms thus deciphered. Read More

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CRISPR Cas9 based genome editing in inherited retinal dystrophies.

Ophthalmic Genet 2021 Apr 6:1-10. Epub 2021 Apr 6.

Council of Scientific and Industrial Research - Institute of Genomics & Integrative Biology, New Delhi, India.

Background: Precision genome engineering, with targeted therapy towards patient-specific mutations is predicted to be the future of personalized medicine. Ophthalmology is in the frontiers of development of targeted therapy since the eye is an accessible organ and has the ease of both delivery as well as monitoring effects of therapy.

Materials And Methods: We reviewed literature using keywords CRISPR, precision medicine, genomic editing, retinal dystrophies, retinitis pigmentosa, Usher syndrome, Stargardt's Disease. Read More

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Discrimination of single-point mutations in unamplified genomic DNA via Cas9 immobilized on a graphene field-effect transistor.

Nat Biomed Eng 2021 Apr 5. Epub 2021 Apr 5.

Keck Graduate Institute, The Claremont Colleges, Claremont, CA, USA.

Simple and fast methods for the detection of target genes with single-nucleotide specificity could open up genetic research and diagnostics beyond laboratory settings. We recently reported a biosensor for the electronic detection of unamplified target genes using liquid-gated graphene field-effect transistors employing an RNA-guided catalytically deactivated CRISPR-associated protein 9 (Cas9) anchored to a graphene monolayer. Here, using unamplified genomic samples from patients and by measuring multiple types of electrical response, we show that the biosensors can discriminate within one hour between wild-type and homozygous mutant alleles differing by a single nucleotide. Read More

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Effects of nitrogen application rate on the photosynthetic pigment, leaf fluorescence characteristics, and yield of indica hybrid rice and their interrelations.

Sci Rep 2021 Apr 5;11(1):7485. Epub 2021 Apr 5.

College of Agronomy, Guizhou University, Guiyang, 550025, China.

A field experiment employing the rice cultivars Qyou6 and Yixiangyou2115 as materials and different nitrogen application rates was conducted in Huangping County, Guizhou Province in 2019 to determine the effects of nitrogen application rate on photosynthetic pigments, leaf fluorescence characteristics, yield, and their interrelations in indica hybrid rice. The results showed that photosynthetic pigment contents generally increased with increasing nitrogen application rate. As the nitrogen rate increased, the maximal quantum yield of PSII (F/F), actual quantum yield of PSII (Φ), and relative electron transfer rate at PSII (ETR) first decreased and then increased at the booting stage; F/F and Φ decreased while ETR first increased and then decreased at the heading stage; nevertheless, F/F and Φ first decreased and then increased but ETR was just the opposite at the maturity stage. Read More

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Control of Microbial Opsin Expression in Stem Cell Derived Cones for Improved Outcomes in Cell Therapy.

Front Cell Neurosci 2021 18;15:648210. Epub 2021 Mar 18.

Institut de la Vision, Sorbonne Université, Paris, France.

Human-induced pluripotent stem cell (hiPSC) derived organoids have become increasingly used systems allowing 3D-modeling of human organ development, and disease. They are also a reliable source of cells for transplantation in cell therapy and an excellent model to validate gene therapies. To make full use of these systems, a toolkit of genetic modification techniques is necessary to control their activity in line with the downstream application. Read More

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Lancet 2021 Apr;397(10281):1301-1315

St John's Institute of Dermatology, Faculty of Life Sciences and Medicine, King's College London, London, UK.

Psoriasis is a common, chronic papulosquamous skin disease occurring worldwide, presenting at any age, and leading to a substantial burden for individuals and society. It is associated with several important medical conditions, including depression, psoriatic arthritis, and cardiometabolic syndrome. Its most common form, chronic plaque or psoriasis vulgaris, is a consequence of genetic susceptibility, particularly in the presence of the HLA-C*06:02 risk allele, and of environmental triggers such as streptococcal infection, stress, smoking, obesity, and alcohol consumption. Read More

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Supporting pharmacogenetic-guided opioid prescriptions for post-operative pain: The design, protocol and preliminary results of the OTP study.

J Psychiatr Res 2021 Mar 24;138:24-33. Epub 2021 Mar 24.

Molecular Brain Science, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, 250 College Street, Toronto, ON, M5T 1R8, Canada; Institute of Medical Science, University of Toronto, 1 Kings College Circle, Toronto, ON, M5S 1A8, Canada; Department of Psychiatry, University of Toronto, 1 Kings College Circle, Toronto, ON, M5S 1A8, Canada.

The interindividual variability in opioid response is an issue that contributes to the ongoing opioid crisis. Current evidence suggests this variability can be attributed to genetic factors. The pharmacogenetics of Opioid Treatment for acute post-operative Pain (OTP) project was a prospective study that aimed to identify genetic markers associated with opioid treatment outcomes. Read More

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Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.

Genes (Basel) 2021 Mar 25;12(4). Epub 2021 Mar 25.

EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200 Brest, France.

Background: Excessive alcohol consumption has long been known to be the primary cause of chronic pancreatitis (CP) but genetic risk factors have been increasingly identified over the past 25 years. The scale and scope of gene-alcohol interactions in CP nevertheless remain unclear.

Methods: All studies that had obtained genetic variant data concurrently on alcoholic CP (ACP) patients, non-ACP (NACP) patients and normal controls were collated. Read More

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Dietary Antioxidants in the Treatment of Male Infertility: Counteracting Oxidative Stress.

Biology (Basel) 2021 Mar 20;10(3). Epub 2021 Mar 20.

Andrology and IVF Laboratory, Division of Urology, Department of Surgery, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.

Infertility affects about 15% of the population and male factors only are responsible for ~25-30% of cases of infertility. Currently, the etiology of suboptimal semen quality is poorly understood, and many environmental and genetic factors, including oxidative stress, have been implicated. Oxidative stress is an imbalance between the production of free radicals, or reactive oxygen species (ROS), and the capacity of the body to counteract their harmful effects through neutralization by antioxidants. Read More

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Warpage Optimisation on the Moulded Part with Straight Drilled and Conformal Cooling Channels Using Response Surface Methodology (RSM), Glowworm Swarm Optimisation (GSO) and Genetic Algorithm (GA) Optimisation Approaches.

Materials (Basel) 2021 Mar 10;14(6). Epub 2021 Mar 10.

Department of Physics, Częstochowa University of Technology, 42-200 Częstochowa, Poland.

It is quite challenging to control both quality and productivity of products produced using injection molding process. Although many previous researchers have used different types of optimisation approaches to obtain the best configuration of parameters setting to control the quality of the molded part, optimisation approaches in maximising the performance of cooling channels to enhance the process productivity by decreasing the mould cycle time remain lacking. In this study, optimisation approaches namely Response Surface Methodology (RSM), Genetic Algorithm (GA) and Glowworm Swarm Optimisation (GSO) were employed on front panel housing moulded using Acrylonitrile Butadiene Styrene (ABS). Read More

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Investigations of Kidney Dysfunction-Related Gene Variants in Sickle Cell Disease Patients in Cameroon (Sub-Saharan Africa).

Front Genet 2021 15;12:595702. Epub 2021 Mar 15.

Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Background: Renal dysfunctions are associated with increased morbidity and mortality in sickle cell disease (SCD). Early detection and subsequent management of SCD patients at risk for renal failure and dysfunctions are essential, however, predictors that can identify patients at risk of developing renal dysfunction are not fully understood.

Methods: In this study, we have investigated the association of 31 known kidney dysfunctions-related variants detected in African Americans from multi-ethnic genome wide studies (GWAS) meta-analysis, to kidney-dysfunctions in a group of 413 Cameroonian patients with SCD. Read More

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Genome engineering in insects for the control of vector borne diseases.

Prog Mol Biol Transl Sci 2021 15;179:197-223. Epub 2021 Feb 15.

Division of Biotechnology, Entomology Research Institute, Loyola College, University of Madras, Chennai, Tamil Nadu, India; Division of Plant Molecular Biology and Biotechnology, Department of Biosciences, Rajagiri College of Social Sciences, Kalamassery, Kochi, India. Electronic address:

Insects cause many vector-borne infectious diseases and have become a major threat to human health. Although many control measures are undertaken, some insects are resistant to it, exacerbated by environmental changes which is a major challenge for control measures. Genetic studies by targeting the genomes of insects may offer an alternative strategy. Read More

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February 2021

Fructosyltransferase production by Aspergillus oryzae BM-DIA using solid-state fermentation and the properties of its nucleotide and protein sequences.

Folia Microbiol (Praha) 2021 Mar 26. Epub 2021 Mar 26.

Department of Food Research, School of Chemistry, Autonomous University of Coahuila, Blvd. V. Carranza e Ing, José Cárdenas S/N. República Oriente, 25280, Saltillo, Coahuila, Mexico.

Fructosyltransferase (FTase) catalyzes the transfer of a fructosyl group to a sucrose molecule or a fructooligosaccharide (FOS) when a FOS with a longer chain is formed. Production of FTase by two Aspergillus species and its mixture was exploited using solid-state fermentation (SSF) and employing agave sap as substrate. The maximum FTase activity (1. Read More

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Tribolium beetles as a model system in evolution and ecology.

Heredity (Edinb) 2021 Mar 25. Epub 2021 Mar 25.

School of Biological Sciences, University of East Anglia, Norwich, UK.

Flour beetles of the genus Tribolium have been utilised as informative study systems for over a century and contributed to major advances across many fields. This review serves to highlight the significant historical contribution that Tribolium study systems have made to the fields of ecology and evolution, and to promote their use as contemporary research models. We review the broad range of studies employing Tribolium to make significant advances in ecology and evolution. Read More

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Gene Expression Analysis of Pediatric Acute Myeloid Leukemia Identified a Hyperactive ASXL1/BAP1 Axis Linked with Poor Prognosis and over Expressed Epigenetic Modifiers.

Pediatr Hematol Oncol 2021 Mar 25:1-11. Epub 2021 Mar 25.

Department of Pathology and Laboratory Medicine, University of Calgary/Alberta Precision Laboratories (APL), Alberta, Canada.

Genetic aberrations in the epigenome are rare in pediatric AML, hence expression data in epigenetic regulation and its downstream effect is lacking in childhood AML. Our pilot study screened epigenetic modifiers and its related oncogenic signal transduction pathways concerning clinical outcomes in a small cohort of pediatric AML in KSA. RNA from diagnostic BM biopsies (n = 35) was subjected to expression analysis employing the nCounter Pan-Cancer pathway panel. Read More

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Uncovering genomic regions controlling plant architectural traits in hexaploid wheat using different GWAS models.

Sci Rep 2021 Mar 24;11(1):6767. Epub 2021 Mar 24.

State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, College of Agriculture, Guangxi University, 100 Daxue Rd., Nanning, Guangxi, China.

Wheat is a major food crop worldwide. The plant architecture is a complex trait mostly influenced by plant height, tiller number, and leaf morphology. Plant height plays a crucial role in lodging and thus affects yield and grain quality. Read More

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Antibody display technologies: selecting the cream of the crop.

Biol Chem 2021 Mar 23. Epub 2021 Mar 23.

Protein Engineering and Antibody Technologies, Merck KGaA, Frankfurter Strasse 250, D-64293Darmstadt, Germany.

Antibody display technologies enable the successful isolation of antigen-specific antibodies with therapeutic potential. The key feature that facilitates the selection of an antibody with prescribed properties is the coupling of the protein variant to its genetic information and is referred to as genotype phenotype coupling. There are several different platform technologies based on prokaryotic organisms as well as strategies employing higher eukaryotes. Read More

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Analyzing the genetic characteristics of a tryptophan-overproducing Escherichia coli.

Bioprocess Biosyst Eng 2021 Mar 22. Epub 2021 Mar 22.

Tianjin Institutes of Industrial Biotechnology, Chinese Academy of Sciences, Tianjin, 300308, People's Republic of China.

L-tryptophan (L-trp) production in Escherichia coli has been developed by employing random mutagenesis and selection for a long time, but this approach produces an unclear genetic background. Here, we generated the L-trp overproducer TPD5 by combining an intracellular L-trp biosensor and fluorescence-activated cell sorting (FACS) in E. coli, and succeeded in elucidating the genetic basis for L-trp overproduction. Read More

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A Novel Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Biomed Res Int 2021 8;2021:6678531. Epub 2021 Mar 8.

Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early-onset osteoarthritis. encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM) surrounding the cells that make up cartilage, ligaments, and tendons. Mutations in are known to give rise to PSACH. Read More

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From allozymes to NGS: population genetics of forest trees in Slovakia in the past 40 years.

Biologia (Bratisl) 2021 Mar 12:1-8. Epub 2021 Mar 12.

Faculty of Wood Technology, Technical University in Zvolen, TG Masaryka 24, 96001 Zvolen, Slovakia.

This review summarizes the development of population genetics and population genomics studies of forest trees in Slovakia during the past 40 years. Various protein and DNA markers have been applied during this period to address several topics in evolutionary genetics and biogeography of trees: allozymes, uniparentally inherited chloroplast and mitochondrial markers, simple sequence repeats and single nucleotide polymorphisms. The main object of studies of phylogeny and postglacial migration were s. Read More

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Development of CRISPR-Cas9 genome editing system in Talaromyces marneffei.

Microb Pathog 2021 Mar 13;154:104822. Epub 2021 Mar 13.

Department of Microbiology & Infectious Disease Center, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China.

Talaromyces marneffei is an important pathogenic thermally dimorphic fungus causing systemic talaromycosis mainly prevalent in Southeast Asia. The dimorphic transition between mycelium and yeast is considered crucial for the pathogenicity of T. marneffei. Read More

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A cell-based ribozyme reporter system employing a chromosomally-integrated 5' exonuclease gene.

BMC Mol Cell Biol 2021 Mar 16;22(1):20. Epub 2021 Mar 16.

National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Pathum Thani, 12120, Thailand.

Background: Bioinformatic genome surveys indicate that self-cleaving ribonucleic acids (ribozymes) appear to be widespread among all domains of life, although the functions of only a small number have been validated by biochemical methods. Alternatively, cell-based reporter gene assays can be used to validate ribozyme function. However, reporter activity can be confounded by phenomena unrelated to ribozyme-mediated cleavage of RNA. Read More

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PARP inhibition promotes ferroptosis via repressing SLC7A11 and synergizes with ferroptosis inducers in BRCA-proficient ovarian cancer.

Redox Biol 2021 Mar 5:101928. Epub 2021 Mar 5.

Department of Gynecology Oncology, Hunan Cancer Hospital and the Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha, Hunan, 410013, China. Electronic address:

Pharmacologic inhibition of PARP is the primary therapeutic strategy for BRCA mutant ovarian cancer. However, most of patients carry wild-type BRCA1/2 with no significant clinical benefits from PARP inhibitors, calling for the needs to further understanding and developing new strategy when employing PARP inhibitors to treat ovarian cancer. Here, we show that ferroptosis, a form of regulated cell death driven by iron-dependent phospholipid peroxidation, is partly responsible for the efficacy of PARP inhibitor olaparib. Read More

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Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.

Mol Genet Genomic Med 2021 Mar 14:e1655. Epub 2021 Mar 14.

Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa City, IA, USA.

Background: Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three-dimensional abnormality of the leg, ankle, and feet that leads to the anomalous positioning of foot and ankle joints and has an incidence of 1 per 1000 live births. OFCs and CTEV may occur together or separately in certain genetic syndromes in addition to other congenital abnormalities. Read More

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N6-methyladenosine reader YTHDC2 and eraser FTO may determine hepatocellular carcinoma prognoses after transarterial chemoembolization.

Arch Toxicol 2021 Mar 13. Epub 2021 Mar 13.

Shandong Provincial Key Laboratory of Radiation Oncology, Cancer Research Center, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, 250117, Shandong, China.

Transarterial chemoembolization (TACE) has significantly improved overall survival (OS) of unresectable hepatocellular carcinoma (HCC) patients. Unfortunately, a portion of patients show no therapeutic responses to TACE. N6-methyladenosine (mA) as well as its epigenetic writers, erasers, and readers play a crucial role in HCC development. Read More

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Kinetic modeling and parameter estimation of TSPO PET imaging in the human brain.

Eur J Nucl Med Mol Imaging 2021 Mar 11. Epub 2021 Mar 11.

Molecular Imaging Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

Purpose: Translocator protein 18-kDa (TSPO) imaging with positron emission tomography (PET) is widely used in research studies of brain diseases that have a neuro-immune component. Quantification of TSPO PET images, however, is associated with several challenges, such as the lack of a reference region, a genetic polymorphism affecting the affinity of the ligand for TSPO, and a strong TSPO signal in the endothelium of the brain vessels. These challenges have created an ongoing debate in the field about which type of quantification is most useful and whether there is an appropriate simplified model. Read More

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Generalized gametic relationships for flexible analyses of parent-of-origin effects.

G3 (Bethesda) 2021 Mar 10. Epub 2021 Mar 10.

Institute of Genetics and Biometry, Leibniz-Institute for Farm Animal Biology, Wilhelm-Stahl-Allee 2, 18196 Dummerstorf, Germany.

A class of epigenetic inheritance patterns known as genomic imprinting allows alleles to influence the phenotype in a parent-of-origin-specific manner. Various pedigree-based parent-of-origin analyses of quantitative traits have attempted to determine the share of genetic variance that is attributable to imprinted loci. In general, these methods require four random gametic effects per pedigree member to account for all possible types of imprinting in a mixed model. Read More

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Genetic assessment of captive red pandas (Ailurus fulgens) in American zoos to address management separation by putative subspecies.

Lucy A Dueck

Zoo Biol 2021 Mar 10. Epub 2021 Mar 10.

Savannah River Ecology Laboratory, Aiken, South Carolina, USA.

Red pandas (Ailurus fulgens) are small charismatic mammals native across montane southern Asia, now endangered by human impacts. They are considered "living fossils" as the sole member of a distinct family, warranting higher conservation priority. Therefore, ex situ breeding programs were initiated to prevent extinction and act as genetic reservoirs for reintroduction, although complicated by apparent taxonomic subdivision. Read More

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DRB1-environment interactions in multiple sclerosis etiology: results from two Swedish case-control studies.

J Neurol Neurosurg Psychiatry 2021 Mar 9. Epub 2021 Mar 9.

Karolinska Institute, Stockholm, Sweden.

Objective: We aimed to investigate the influence of environmental risk factors for multiple sclerosis (MS) in different genetic contexts, and study if interactions between environmental factors and human leucocyte antigen (HLA) genes differ in magnitude according to heterozygocity and homozygocity for .

Methods: Using population-based case-control studies (6985 cases, 6569 controls), subjects with different genotypes and smoking, EBNA-1 status and adolescent Body Mass status, were compared regarding MS risk, by calculating OR with 95% CI employing logistic regression. The interaction between different genotypes and each environmental factor was evaluated on the additive scale. Read More

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Drosophila sensory receptors-a set of molecular Swiss Army Knives.

Craig Montell

Genetics 2021 Mar;217(1):1-34

Department of Molecular, Cellular, and Developmental Biology, The Neuroscience Research Institute, University of California, Santa Barbara, CA 93106, USA.

Genetic approaches in the fruit fly, Drosophila melanogaster, have led to a major triumph in the field of sensory biology-the discovery of multiple large families of sensory receptors and channels. Some of these families, such as transient receptor potential channels, are conserved from animals ranging from worms to humans, while others, such as "gustatory receptors," "olfactory receptors," and "ionotropic receptors," are restricted to invertebrates. Prior to the identification of sensory receptors in flies, it was widely assumed that these proteins function in just one modality such as vision, smell, taste, hearing, and somatosensation, which includes thermosensation, light, and noxious mechanical touch. Read More

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